Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritancede Almeida, J C ; Reis, D F ; Llerena Júnior, J ; Barbosa Neto, J ; Pontes, R L ; Middleton, S ; Telles, L FJournal of medical genetics, 1991-04, Vol.28 (4), p.277-279 [Peer Reviewed Journal]London: BMJ Publishing Group LtdFull text available |
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Material Type: Article
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Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY femalePereira, E T ; de Almeida, J C ; Gunha, A C ; Patton, M ; Taylor, R ; Jeffery, SJournal of medical genetics, 1991-09, Vol.28 (9), p.591-595 [Peer Reviewed Journal]London: BMJ Publishing Group LtdFull text available |
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Material Type: Article
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Further report of a patient with humeroradioulnar synostosis and hydronephrosisBoy, R ; Horovitz, D ; Vargas, F R ; Barbosa Neto, J G ; Llerena Júnior, J C ; Almeida, J CJournal of medical genetics, 1995-01, Vol.32 (1), p.78-79 [Peer Reviewed Journal]England: BMJ Publishing Group LtdFull text available |
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Material Type: Article
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5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylationCastro, R ; Rivera, I ; Ravasco, P ; Camilo, M E ; Jakobs, C ; Blom, H J ; de Almeida, I TJournal of medical genetics, 2004-06, Vol.41 (6), p.454-458 [Peer Reviewed Journal]London: BMJ Publishing Group LtdFull text available |